Incidental Mutation 'R7207:Vill'
ID |
560707 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vill
|
Ensembl Gene |
ENSMUSG00000038775 |
Gene Name |
villin-like |
Synonyms |
Villp |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R7207 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 118900281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 849
(Q849L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010804]
[ENSMUST00000051386]
[ENSMUST00000074734]
[ENSMUST00000126251]
[ENSMUST00000136561]
[ENSMUST00000141185]
[ENSMUST00000213464]
[ENSMUST00000214470]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010804
|
SMART Domains |
Protein: ENSMUSP00000010804 Gene: ENSMUSG00000010660
Domain | Start | End | E-Value | Type |
PH
|
22 |
132 |
9.41e-10 |
SMART |
EFh
|
144 |
172 |
2.87e-2 |
SMART |
EFh
|
180 |
208 |
9.34e1 |
SMART |
Pfam:EF-hand_like
|
213 |
295 |
1.2e-23 |
PFAM |
PLCXc
|
296 |
440 |
5.47e-94 |
SMART |
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
PLCYc
|
492 |
609 |
1.22e-68 |
SMART |
C2
|
630 |
735 |
1.78e-21 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051386
AA Change: Q849L
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000061731 Gene: ENSMUSG00000038775 AA Change: Q849L
Domain | Start | End | E-Value | Type |
GEL
|
14 |
114 |
4.59e-13 |
SMART |
GEL
|
135 |
227 |
4.18e-16 |
SMART |
GEL
|
252 |
348 |
8.35e-25 |
SMART |
GEL
|
391 |
488 |
7.92e-17 |
SMART |
GEL
|
508 |
594 |
4.38e-19 |
SMART |
GEL
|
613 |
706 |
7.8e-16 |
SMART |
VHP
|
824 |
859 |
2.12e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074734
AA Change: Q765L
PolyPhen 2
Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000074294 Gene: ENSMUSG00000038775 AA Change: Q765L
Domain | Start | End | E-Value | Type |
GEL
|
14 |
114 |
4.59e-13 |
SMART |
GEL
|
135 |
227 |
4.18e-16 |
SMART |
GEL
|
252 |
348 |
8.35e-25 |
SMART |
GEL
|
391 |
488 |
7.92e-17 |
SMART |
GEL
|
508 |
594 |
4.38e-19 |
SMART |
VHP
|
740 |
775 |
2.12e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126251
AA Change: Q382L
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000116262 Gene: ENSMUSG00000038775 AA Change: Q382L
Domain | Start | End | E-Value | Type |
Blast:GEL
|
1 |
56 |
9e-21 |
BLAST |
GEL
|
63 |
149 |
4.38e-19 |
SMART |
GEL
|
168 |
261 |
7.8e-16 |
SMART |
VHP
|
357 |
392 |
2.12e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136561
|
SMART Domains |
Protein: ENSMUSP00000123393 Gene: ENSMUSG00000038775
Domain | Start | End | E-Value | Type |
GEL
|
1 |
96 |
2.46e-13 |
SMART |
Blast:GEL
|
116 |
140 |
2e-8 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141185
AA Change: Q465L
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116546 Gene: ENSMUSG00000038775 AA Change: Q465L
Domain | Start | End | E-Value | Type |
GEL
|
7 |
104 |
7.92e-17 |
SMART |
GEL
|
124 |
210 |
4.38e-19 |
SMART |
GEL
|
229 |
322 |
7.8e-16 |
SMART |
VHP
|
440 |
475 |
2.12e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214470
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,527,734 (GRCm39) |
Y1019H |
probably benign |
Het |
Adam11 |
C |
A |
11: 102,662,883 (GRCm39) |
A212D |
probably benign |
Het |
Adamts13 |
C |
A |
2: 26,868,707 (GRCm39) |
H230Q |
probably damaging |
Het |
Adgrl3 |
G |
A |
5: 81,457,874 (GRCm39) |
M1I |
probably null |
Het |
Agap1 |
A |
T |
1: 89,770,821 (GRCm39) |
H657L |
possibly damaging |
Het |
Ano3 |
T |
C |
2: 110,611,768 (GRCm39) |
D238G |
probably damaging |
Het |
Atp8b5 |
A |
T |
4: 43,357,018 (GRCm39) |
I589F |
probably damaging |
Het |
Bmp1 |
C |
T |
14: 70,717,000 (GRCm39) |
A859T |
possibly damaging |
Het |
Cdh20 |
C |
A |
1: 104,921,702 (GRCm39) |
D666E |
probably damaging |
Het |
Cep135 |
T |
G |
5: 76,780,090 (GRCm39) |
D807E |
probably benign |
Het |
Cldn13 |
G |
A |
5: 134,943,766 (GRCm39) |
H140Y |
probably benign |
Het |
Cnksr1 |
G |
T |
4: 133,962,434 (GRCm39) |
Q155K |
possibly damaging |
Het |
Col1a1 |
G |
A |
11: 94,829,352 (GRCm39) |
R121Q |
unknown |
Het |
Coro6 |
G |
A |
11: 77,358,089 (GRCm39) |
A225T |
possibly damaging |
Het |
Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
Dhrs7b |
C |
A |
11: 60,746,623 (GRCm39) |
Y237* |
probably null |
Het |
Dnah3 |
A |
G |
7: 119,570,312 (GRCm39) |
F2303L |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,734,516 (GRCm39) |
D831E |
probably damaging |
Het |
Dst |
T |
C |
1: 34,202,418 (GRCm39) |
S575P |
probably damaging |
Het |
Epg5 |
T |
C |
18: 77,992,170 (GRCm39) |
L289P |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,714,387 (GRCm39) |
N162S |
probably damaging |
Het |
Fbf1 |
A |
T |
11: 116,040,300 (GRCm39) |
Y602N |
probably benign |
Het |
Fgd4 |
A |
T |
16: 16,302,420 (GRCm39) |
M45K |
probably benign |
Het |
Fryl |
C |
T |
5: 73,222,438 (GRCm39) |
V2048I |
probably benign |
Het |
Gulp1 |
T |
C |
1: 44,805,292 (GRCm39) |
V127A |
possibly damaging |
Het |
H2-DMb1 |
T |
A |
17: 34,376,490 (GRCm39) |
I203N |
probably damaging |
Het |
Harbi1 |
T |
C |
2: 91,542,790 (GRCm39) |
S84P |
probably damaging |
Het |
Hrh2 |
T |
C |
13: 54,368,266 (GRCm39) |
S81P |
possibly damaging |
Het |
Iars1 |
T |
C |
13: 49,841,791 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
T |
C |
14: 23,359,083 (GRCm39) |
*1087W |
probably null |
Het |
Lama5 |
T |
A |
2: 179,848,877 (GRCm39) |
N241I |
probably damaging |
Het |
Lig4 |
T |
A |
8: 10,022,101 (GRCm39) |
K560* |
probably null |
Het |
Lpin3 |
G |
T |
2: 160,735,923 (GRCm39) |
E68* |
probably null |
Het |
Mrtfb |
A |
T |
16: 13,144,300 (GRCm39) |
I7L |
probably benign |
Het |
Msrb3 |
A |
T |
10: 120,627,305 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
G |
7: 141,416,602 (GRCm39) |
T3183A |
probably benign |
Het |
Mx1 |
T |
A |
16: 97,253,398 (GRCm39) |
D342V |
probably benign |
Het |
Nrap |
G |
T |
19: 56,333,953 (GRCm39) |
T1003K |
probably damaging |
Het |
Or8u10 |
A |
G |
2: 85,915,159 (GRCm39) |
S321P |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,326,327 (GRCm39) |
P87L |
probably damaging |
Het |
Pms2 |
C |
T |
5: 143,850,452 (GRCm39) |
T89I |
probably damaging |
Het |
Ppp1r12c |
C |
A |
7: 4,492,867 (GRCm39) |
R203L |
probably damaging |
Het |
Pramel31 |
A |
G |
4: 144,088,473 (GRCm39) |
T90A |
probably benign |
Het |
Rab44 |
C |
T |
17: 29,357,013 (GRCm39) |
Q48* |
probably null |
Het |
Rgs14 |
T |
C |
13: 55,531,047 (GRCm39) |
V417A |
probably benign |
Het |
Sgms1 |
T |
A |
19: 32,120,147 (GRCm39) |
K253M |
probably null |
Het |
Sidt2 |
T |
C |
9: 45,856,449 (GRCm39) |
Y492C |
probably damaging |
Het |
Slco1a5 |
G |
T |
6: 142,194,475 (GRCm39) |
Y389* |
probably null |
Het |
Slfn14 |
G |
A |
11: 83,170,214 (GRCm39) |
Q477* |
probably null |
Het |
Sorbs3 |
T |
C |
14: 70,438,934 (GRCm39) |
K142R |
probably damaging |
Het |
Sphk1 |
A |
T |
11: 116,426,590 (GRCm39) |
D182V |
probably damaging |
Het |
Srsf9 |
C |
G |
5: 115,465,481 (GRCm39) |
Y38* |
probably null |
Het |
Stk40 |
A |
C |
4: 126,019,547 (GRCm39) |
E107A |
probably damaging |
Het |
Syngr4 |
T |
C |
7: 45,538,101 (GRCm39) |
Y89C |
possibly damaging |
Het |
Tead1 |
G |
A |
7: 112,441,287 (GRCm39) |
R109H |
possibly damaging |
Het |
Thra |
A |
G |
11: 98,651,802 (GRCm39) |
Q108R |
probably damaging |
Het |
Tnni3k |
G |
A |
3: 154,580,782 (GRCm39) |
T621I |
probably damaging |
Het |
Trim3 |
A |
C |
7: 105,262,583 (GRCm39) |
V525G |
possibly damaging |
Het |
Usp49 |
T |
C |
17: 47,989,802 (GRCm39) |
V529A |
probably benign |
Het |
Vps36 |
T |
A |
8: 22,701,623 (GRCm39) |
S237T |
probably benign |
Het |
Zar1l |
A |
T |
5: 150,430,558 (GRCm39) |
C284* |
probably null |
Het |
Zfp948 |
T |
C |
17: 21,808,602 (GRCm39) |
V598A |
possibly damaging |
Het |
Zfp952 |
T |
C |
17: 33,222,489 (GRCm39) |
Y323H |
possibly damaging |
Het |
|
Other mutations in Vill |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00943:Vill
|
APN |
9 |
118,892,380 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01024:Vill
|
APN |
9 |
118,899,418 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01934:Vill
|
APN |
9 |
118,895,877 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02118:Vill
|
APN |
9 |
118,889,466 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02260:Vill
|
APN |
9 |
118,887,509 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02507:Vill
|
APN |
9 |
118,899,845 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02870:Vill
|
APN |
9 |
118,890,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02941:Vill
|
APN |
9 |
118,895,955 (GRCm39) |
unclassified |
probably benign |
|
IGL02835:Vill
|
UTSW |
9 |
118,896,513 (GRCm39) |
missense |
probably benign |
0.11 |
R0285:Vill
|
UTSW |
9 |
118,899,895 (GRCm39) |
unclassified |
probably benign |
|
R0571:Vill
|
UTSW |
9 |
118,899,701 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1024:Vill
|
UTSW |
9 |
118,895,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Vill
|
UTSW |
9 |
118,899,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R1374:Vill
|
UTSW |
9 |
118,890,562 (GRCm39) |
missense |
probably benign |
0.03 |
R1400:Vill
|
UTSW |
9 |
118,892,415 (GRCm39) |
missense |
probably benign |
0.01 |
R1551:Vill
|
UTSW |
9 |
118,892,440 (GRCm39) |
missense |
probably benign |
|
R1584:Vill
|
UTSW |
9 |
118,894,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R1630:Vill
|
UTSW |
9 |
118,899,769 (GRCm39) |
missense |
probably benign |
0.37 |
R1721:Vill
|
UTSW |
9 |
118,895,082 (GRCm39) |
missense |
probably damaging |
0.98 |
R1946:Vill
|
UTSW |
9 |
118,887,560 (GRCm39) |
missense |
probably benign |
|
R2311:Vill
|
UTSW |
9 |
118,894,965 (GRCm39) |
missense |
probably benign |
0.08 |
R2392:Vill
|
UTSW |
9 |
118,896,628 (GRCm39) |
unclassified |
probably benign |
|
R2509:Vill
|
UTSW |
9 |
118,899,370 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2760:Vill
|
UTSW |
9 |
118,895,950 (GRCm39) |
critical splice donor site |
probably null |
|
R3886:Vill
|
UTSW |
9 |
118,895,782 (GRCm39) |
missense |
probably benign |
0.24 |
R3944:Vill
|
UTSW |
9 |
118,897,499 (GRCm39) |
missense |
probably benign |
0.10 |
R4245:Vill
|
UTSW |
9 |
118,900,359 (GRCm39) |
unclassified |
probably benign |
|
R4246:Vill
|
UTSW |
9 |
118,889,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Vill
|
UTSW |
9 |
118,897,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R4889:Vill
|
UTSW |
9 |
118,892,409 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4932:Vill
|
UTSW |
9 |
118,890,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R4946:Vill
|
UTSW |
9 |
118,897,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R5121:Vill
|
UTSW |
9 |
118,899,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5646:Vill
|
UTSW |
9 |
118,900,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R6089:Vill
|
UTSW |
9 |
118,886,867 (GRCm39) |
missense |
probably benign |
0.00 |
R6149:Vill
|
UTSW |
9 |
118,887,482 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6167:Vill
|
UTSW |
9 |
118,895,932 (GRCm39) |
missense |
probably damaging |
0.98 |
R6318:Vill
|
UTSW |
9 |
118,892,716 (GRCm39) |
missense |
probably benign |
0.15 |
R6319:Vill
|
UTSW |
9 |
118,892,716 (GRCm39) |
missense |
probably benign |
0.15 |
R6590:Vill
|
UTSW |
9 |
118,890,975 (GRCm39) |
missense |
probably benign |
0.04 |
R6690:Vill
|
UTSW |
9 |
118,890,975 (GRCm39) |
missense |
probably benign |
0.04 |
R6889:Vill
|
UTSW |
9 |
118,894,950 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7353:Vill
|
UTSW |
9 |
118,894,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R7398:Vill
|
UTSW |
9 |
118,899,716 (GRCm39) |
missense |
probably benign |
0.26 |
R7883:Vill
|
UTSW |
9 |
118,894,589 (GRCm39) |
nonsense |
probably null |
|
R8165:Vill
|
UTSW |
9 |
118,895,821 (GRCm39) |
missense |
probably damaging |
0.98 |
R8281:Vill
|
UTSW |
9 |
118,887,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R8380:Vill
|
UTSW |
9 |
118,886,917 (GRCm39) |
missense |
probably benign |
0.04 |
R8685:Vill
|
UTSW |
9 |
118,895,795 (GRCm39) |
missense |
probably benign |
0.00 |
R8847:Vill
|
UTSW |
9 |
118,897,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R8968:Vill
|
UTSW |
9 |
118,892,671 (GRCm39) |
critical splice donor site |
probably null |
|
R9290:Vill
|
UTSW |
9 |
118,890,562 (GRCm39) |
missense |
probably benign |
0.03 |
RF005:Vill
|
UTSW |
9 |
118,889,507 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vill
|
UTSW |
9 |
118,899,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAATGAATGACACCTCCGGG -3'
(R):5'- AGCAGTCAGAAGGAATCCTTTC -3'
Sequencing Primer
(F):5'- AATGACACCTCCGGGATGGG -3'
(R):5'- AAGACGGTGTCCCAGAGTGC -3'
|
Posted On |
2019-06-26 |